ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028146
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40549
ClinVar RCV Id:
RCV000033535
RCV000694590
RCV000208219
RCV000660240
RCV002490445
RCV004018714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Pro495Thr
CA261540
NM_001330437.2:c.1483C>A